Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Brian P. O’Neill; Hugo W. Moser; Lee C. Marmion

doi:10.1212/wnl.32.5.540

Adrenoleukodystrophy: Elevated C₂₆ fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Brian P. O’Neill, Hugo W. Moser, Lee C. Marmion

Neurology

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12 Scopus citations

Abstract

Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C_26:0 fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C₂₆/C₂₂ fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.

Original language	English (US)
Pages (from-to)	540-542
Number of pages	3
Journal	Neurology
Volume	32
Issue number	5
DOIs	https://doi.org/10.1212/wnl.32.5.540
State	Published - May 1982

ASJC Scopus subject areas

Clinical Neurology

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abstract = "Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.",

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AU - Moser, Hugo W.

AU - Marmion, Lee C.

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AB - Varying combinations of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 fatty acid (hexacosanoic acid) in cultured skin fibroblasts. The abnormal C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.

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Adrenoleukodystrophy: Elevated C₂₆ fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred

Abstract

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